Day 14 Flashcards

Question

A 15-year-old boy is seen in paediatric A&E with his parents after being referred by his GP for a 6 month history of intermittent right hip pain and associated limp. The pain is worse on movement. There is no known history of trauma and he is otherwise well. On clinical examination, he has an antalgic gait, and his right leg is flexed and externally rotated. There is marked restriction of internal rotation and abduction in the right leg. Examination of the left hip is unremarkable. His weight is measured to be in the 90th centile and height in the 25th centile. **Which of the following is the most likely diagnosis?**

Answer 1

**Slipped Capital Femoral Epiphysis** This child is overweight, and has presented with chronic unilateral hip pain with an associated limp, which makes the most likely diagnosis slipped capital femoral epiphysis (SCFE). Classically the affected hip is also flexed and the leg externally rotated, with pain worse on movement (especially internal rotation and abduction). SCFE is more common in males and around 80% of these are obese.

Answer 2

**Movicol** This 3 year old with abdominal pain that improves with fruit, hard pellet-like stool and faecal loading on abdominal examination with no red flag features most likely has chronic constipation of childhood. This is particularly common in children who were late to toilet train. As the rectum fills, if it is not emptied, the full rectum is stretched too far for the stretch receptors to fire. This results in a loss of the sensation of needing to pass stool. The best first step in management for chronic constipation with palpable faecal loading is a movicol dis-impaction plan.

Answer 3

1540ml/day The total maintenance fluid requirements for children over 24-hours are calculated as follows: 100ml/kg for the first 10 kg; 50ml/kg for the second 10 kg; and 20ml/kg for each kilogram over 20 kg.

Answer 4

**Recent viral upper respiratory tract infection** This well-appearing child with acute onset non-weight bearing limp and low-grade fever following a recent viral infection most likely has a diagnosis of **transient** **synovitis**. The underlying trigger for the inflammation of the synovial membrane in transient synovitis is a preceding viral infection.

Answer 5

Hand, foot and mouth disease. Hand, foot and mouth disease presents with blisters on the hands and feet and ulcerations on the tongue, as well as a fever.

Answer 6

**Ventricular Septal Defect** Ventricular septal defects (VSD) classically cause a harsh pansystolic murmur loudest at the left lower sternal border; the louder the murmur the smaller the defect. The dysmorphic features described are also characteristic of Down syndrome, congenital VSDs are frequently associated with other congenital abnormalities like Down syndrome

Answer 7

**Liver biopsy** This child, with a rash and fever consistent with chickenpox and vomiting, lethargy, slurred speech and **hepatomegaly after taking aspirin, most likely has a diagnosis of Reye's syndrome.** Reye's syndrome causes liver failure and subsequent encephalopathy after aspirin treatment for viral infections in children. **The diagnosis can be confirmed with hepatocyte microvesicular steatosis on liver biopsy.**

Answer 8

aspartame is used in sugar-free drinks like diet soda and squash and sugar-free chewing gum.

Answer 9

**Inheritance pattern (1)** * autosomal recessive mutation **Presenting features (3)** * learning disabilities * seizures * poor growth

Answer 10

**_Transient synovitis_** This is the correct answer. Distinguishing between transient synovitis and septic arthritis can be clinically challenging as there is significant symptom overlap. Kocher's criteria states certain factors that makes a diagnosis of septic arthritis more likely: * Fever \> 38.5ºC * Refusal to weight bear on affected side * Raised Inflammatory markers: ESR \> 40; CRP \> 20 * Raised White Cell Count \> 12000 cells/mm^3 As this child has only scored one point, the chance of him having septic arthritis is 3%, making transient synovitis the most likely diagnosis.

Answer 11

Kocher's criteria states certain factors that makes a diagnosis of septic arthritis more likely: * Fever \> 38.5ºC * Refusal to weight bear on affected side * Raised Inflammatory markers: ESR \> 40; CRP \> 20 * Raised White Cell Count \> 12000 cells/mm^3

Answer 12

**Micturating cystourethrogram** * The diagnosis here is **vesicoureteric** **reflux**. * It is caused by the abnormal insertion of the ureters into the bladder, allowing urine to reflux on micturition. * There is a risk of renal scarring and chronic kidney disease. * Functional scans, like the MCUG, should be postponed until three months after a urinary tract infection.

Answer 13

**Gastro-oesophageal reflux disease** This is the movement of gastric contents into the oesophagus. It is very common in infancy as the lower oesophageal sphincter can be slow to mature. It typically resolves spontaneously, and can be treated simply with changes in position when feeding and the addition of thickening agents to food. When it causes complications (in this case failure to thrive) it may require medical or surgical treatment with acid suppression (ranitidine or omeprazole) or a fundoplication.

Answer 14

Saliva measles IgM This unvaccinated child with cough, coryza and conjunctivitis, white spots in the mouth and maculopapular rash should raise suspicion for measles infection. The diagnosis of measles is confirmed by checking for measles IgM antibodies, either from a blood or saliva sample.

Answer 15

**Atrial septal defect** This child presenting with a * pulmonary ejection murmur * and a fixed split second heart sound has an atrial septal defect.

Answer 16

**Coeliac Disease** This child is presenting with steatorrhoea, abdominal distension and failure to thrive making Coeliac disease the most likely diagnosis. Coeliac disease is caused by a sensitivity to gluten, and in children, features start to develop when cereals are introduced into their diet (after weaning). The abdominal distension is caused by distension of the bowel with gas and fluids. The irritability is likely secondary to anaemia, which is a common complication of coeliac disease.

Answer 17

**Trinucleotide repeat** This teenager with learning difficulties and epilepsy, social anxiety, poor eye contact, echolalia (repeating your speech), **mitral valve prolapse** and prominent ears and jaw with a **long thin face** most likely has a diagnosis of fragile X syndrome. The underlying genetic defect in **fragile X syndrome** is a trinucleotide repeat in the **FMR1** (familial mental retardation 1) gene.

Answer 18

Juvenile idiopathic arthritis Juvenile idiopathic arthritis (JIA) is a condition that affects multiple joints and presents with a characteristic salmon-pink rash. This patient has systemic JIA; however, oligoarticular and polyarthritic variants exist. Other features of systemic JIA include: lymphadenopathy, uveitis, pyrexia, anorexia and weight loss.

Answer 19

* The doctor suspects a diagnosis of **Henoch-Schonlein Purpura.** * Urine dip **The patient is presenting with the classic triad of;** * abdominal pain * arthralgia * purpura on the extensor surfaces It is important to establish whether there is any renal involvement as IgA immune complexes can deposit in the kidneys and cause haematuria and proteinuria.

Answer 20

**Periventricular** **damage** (due to a hypoxic ischaemic event during a prolonged delivery due to the baby getting stuck) is the aetiology behind spastic diplegia. The gait is classically termed as scissor walking.

Answer 21

**Narrowing of the aorta** This baby with a significant difference in saturations between the * right upper and lower limb (\>3%) * and radio-femoral delay most **likely has co-arctation of the aorta.**

Answer 22

**Neonatal Respiratory Distress Syndrome** Neonatal respiratory distress syndrome is common in premature neonates (due to the lack of surfactant), especially if the mother is diabetic. It presents with increased work of breathing shortly after birth, and the chest x-ray demonstrating diffuse granular opacities is characteristic of neonatal respiratory distress syndrome.

Answer 23

* **Congenital hypothyroidism** * **Raised thyroid stimulating hormone (TSH)** This baby with **hypotonia**, **macroglossia**, an **umbilical** **hernia**, reduced feeding and constipation (mild soft abdominal distention) has congenital hypothyroidism. This would present on the heel prick test with a raised TSH level. The heel prick test is used to screen for various genetic and metabolic disorders and is taken at days 5-8 of life.

Answer 24

Antibiotic therapy. This boy presents with features in keeping with scarlet fever, which initially presents with non-specific features such as headache, fever, sore throat. The characteristic rash is described as ‘sandpaper’ texture and children can develop ‘strawberry tongue’, named as the tongue appears bright red. Scarlet fever is treated with antibiotic therapy.

Answer 25

**Bilateral renal agenesis** This is one of the main causes of **Potter’s** **syndrome**, which would present with the characteristics in this question.

Answer 26

**It is generally abnormal within the first 24 hours of life** Physiological ('normal') jaundice occurs as a result of increased levels of foetal red blood cells (which have a higher turnover than adult red blood cells) and an immature liver which is not able to metabolise bilirubin as quickly. However, this generally presents after 24 hours of life, usually on day 3 to 5. Therefore, clinically significant jaundice occurring within the first 24 hours of life is generally secondary to a pathological cause, most commonly haemolysis.

Answer 27

Ultrasound abdomen Projectile vomiting soon after feeds is highly suggestive of pyloric stenosis. This is caused by hypertrophy of the pyloric sphincter of the stomach, which is best visualised by an ultrasound scan of the abdomen. It is treated surgically with a pyloromyotomy.

Answer 28

**1.2g benzylpenicillin IM/IV** Given the high probability that this patient could be suffering from a bacterial meningitis it is crucial they are given suitable antibiotic treatment and transferred immediately to secondary care. 1.2mg benzylpenicillin is the appropriate dose in this age group.

Answer 29

## Footnote **21-hydroxylase** This is the typical presentation of congenital **adrenal** **hyperplasia**, 90% of which is caused by 21-hydroxylase deficiency. There is virilisation of the female external genitalia due to overproduction of ACTH and subsequently adrenal androgens, and a salt wasting crisis caused by deficiency of aldosterone. These patients have raised 17-A-hydroxylase.

Answer 30

**Prader-Willi Syndrome** This girl with progressive obesity, hyperphagia, short stature and learning difficulties on a background of hypotonia which would have caused difficulty breastfeeding as an infant, most likely has a diagnosis of Prader-Willi syndrome. Parents of children with Prader-Willi syndrome often report that their child will eat anything and everything and will be consistently hungry.

Answer 31

**No nocturnal symptoms** This is an element of complete asthma control, along with: * No daytime symptoms * no need for rescue medication (e.g. Salbutamol) * no asthma exacerbations * no limitations on activity including exercise * normal lung function * minimal side effects from medication. Complete asthma control is the aim for management in all patients with asthma.

Answer 32

**Morbilliform Eruption** A morbilliform eruption is characterised by a generalised maculopapular rash. This child presented with lymphadenopathy, fever, abdominal pain and sore throat most likely as a result of infectious mononucleosis, not bacterial tonsillitis. Morbilliform reactions are extremely common in patients with infectious mononucleosis taking Amoxicillin.

Answer 33

Joint aspiration This question is asking which investigation can decipher between transient synovitis (a self-limiting condition requiring supportive treatment only) and septic arthritis (joint infection requiring aggressive management with IV antibiotics). The best investigation to definitively diagnose the more serious condition of septic arthritis is joint aspiration. Joint aspirate should be sent for microscopy, culture and sensitivities. If bacteria are discovered in the synovial fluid, this is indicative of septic arthritis. A negative culture is more evidence towards a benign cause like transient synovitis.

Answer 34

**H. influenzae** Correct. This is a classic presentation of **acute** **epiglottitis** with a rapid onset leading to inability to swallow and or talk with drooling. Children will often be sat upright in a tripod position as they try to keep their airways open. Note that H. influenzae causing acute epiglottitis in children is very rare following the introduction of vaccinations so it is worth delving further into the history to ascertain if there is a background of poor compliance with vaccinations.

Answer 35

Parvovirus B19 can result in an arthralgia (up to 60%).

Answer 36

**Urine dipstick** At this stage a urine dipstick is quick and easy to perform at the bedside and would help guide the next best step in the child's management. If the urinalysis is strongly positive for protein 3+ or 4+ in the absence of haematuria then **nephrotic syndrome** is very likely. In children this is most likely to be minimal change disease.

Answer 37

**_Features of Nephrotic syndrome (4)_** * Significant proteinuria * Oedema * Hypoalbuminaemia * Hyperlipidaemia

Answer 38

AUTISM SPECTRUM

Answer 39

**Osteosarcoma** In an adolescent, localised pain of several months duration with no traumatic event or associated injury and an associated mass on examination is highly suggestive of **osteosarcoma**. Osteosarcoma is a primary malignant bone tumour where the malignant bone cells produce immature bone. **This is the most common primary malignancy of bone in children and adolescents and most commonly affects the distal femur and proximal tibia.**

Answer 40

**2.8 deaths per 1000 births** This was a slight increase from 2.5 per 1000 births in 2014, likely due to an increased number of births under 28 weeks gestation. This equates to a total of 1,742 deaths.

Answer 41

**Acute lymphocytic leukaemia (ALL)** ALL is the most common malignancy affecting children, and usually presents with features of bone marrow failure: * anaemia * neutropaenia (resulting in frequent infections) * thrombocytopaenia (which leads to petechiae and easy bruising) Other features include **splenomegaly** and **hepatomegaly**, testicular infiltration, fever, bone pain and anorexia.

Answer 42

**Ventricular septal defect (VSD)** This 6 week old baby with a pan-systolic murmur most likely has a ventricular septal defect (VSD). Congenital cardiac defects are the most common birth defect. The most common congenital cardiac defect is a ventricular septal defect, accounting for about 30-60% of all congenital heart defects.

Answer 43

**Intrauterine growth restriction** The combination of maternal smoking during pregnancy, alcohol use, poor nutritional status and low BMI all increase the risk of intrauterine growth restriction. Other risk factors include maternal co-morbidity or infection, chromosomal defects or multiple pregnancy.

Answer 44

**Frontal lobe** This boy with hyperactive behaviour and problems paying attention in more than 1 setting (home and school) has attention deficit hyperactivity disorder (ADHD). Studies have shown that in patients with ADHD, there is reduced function of the frontal lobe, which controls executive function. The theory is that, as executive function controls the ability to focus attention and inhibit impulsive behaviours, a reduced function of the frontal lobe results in inattention and impulsivity.

Answer 45

**Palivizumab** This is a premature boy under the age of six months (corrected) approaching bronchiolitis season. He has significant acyanotic heart disease, requiring furosemide to prevent from him being symptomatic. He meets the indications for RSV prophylaxis. Palivizumab is a monoclonal antibody that minimises the risk of infection by RSV. It is given subcutaneously once a month during bronchiolitis season.

Answer 46

* Peak exploratory flow rate is \<33% predicted. * Oxygen saturations \<92%. * Silent chest on auscultation. * Weak or no respiratory effort. * Hypotension. * Exhaustion. * Confusion.

Answer 47

Impetigo Impetigo is a superficial bacterial skin infection typically caused by either Staphylococcus Aureus or Streptococcus Pyogenes. Characteristic lesions are thin-walled pustules/vesicles that rupture to form golden-brown crusts (as described in the stem). Impetigo is extremely infectious, so it is likely that the child has caught it from the other children in nursery.

Answer 48

**He will be infectious until 24 hours after the first dose of antibiotics and should not return to school until then.** This boy presents with features in keeping with **scarlet fever**, which is contagious until antibiotic therapy is established.

Answer 49

CT head This boy with a history of head trauma is showing concerning signs such as vomiting more than twice, loss of consciousness for \> 5 minutes and drowsiness. These features are indications for a CT head scan to be performed.

Answer 50

**Small bowel biopsy** This child with loose **foul**-**smelling** **stool**, **failure** to **thrive** (significantly dropping off centiles), general irritability and **abdominal** **distention** since weaning most likely has a diagnosis of **coeliac** **disease**. Although serologic testing can be useful in diagnosing coeliac disease, the gold standard for diagnosis is a small bowel biopsy. ***Anti-tissue transglutaminase antibodies would be used for screening***

Answer 51

CT orbit This child with erythema and oedema around one eye, fever, reduced visual acuity, double vision and limited eye movements is most likely to have **orbital** **cellulitis**. The most common antecedent to orbital cellulitis is bacterial sinusitis (headache, fever and copious yellow snot). The most important investigation in suspected orbital cellulitis is a CT of the orbit to assess the depth of infection and if there are any abscesses or risk for invasion of the CNS.

Answer 52

The doctor suspects a **diagnosis of croup.** **Oral Dexamethasone** All children, with mid, moderate or severe croup should be given a one-off dose of oral Dexamethasone 0.15mg/kg to reduce the inflammation and thus airway swelling and enable children to breathe more easily.

Answer 53

**IV antibiotics** This child with erythema and oedema around one eye but normal visual acuity and eye movements most likely has **preseptal** **cellulitis**. Preseptal cellulitis is an infection of the superficial tissues around the eyelid. The majority of paediatric cases require immediate empirical intravenous antibiotic therapy for 2 to 5 days because of the risk of occult orbital cellulitis or, rarely, worsening to orbital cellulitis and its complications. Alternatively, empirical oral therapy may be initiated in children with reliable daily follow-up.

Answer 54

**Which drug is being used to support his life?** a prostaglandin E infusion **Which drug would most likely cause him to deteriorate?** Ibuprofen

Answer 55

**Muscle Biopsy** Muscle Biopsy is the best option because the question asks for a definitive diagnosis.

Answer 56

Bacterial tracheitis Always consider bacterial tracheitis in a barking cough with continuous stridor that does not resolve.

Answer 57

Barlow and Ortolani tests This child has several risk factors for developmental dysplasia of the hip: female, firstborn child and breech presentation. This makes her eligible for ultrasound screening during the newborn check, as well as during the six-week baby check using the Barlow and Ortolani tests. The Barlow test involves attempting to dislocate an articulated femoral head, whereas an Ortolani test attempts to relocate a dislocated femoral head.

Answer 58

**Conduct disorder** This boy presents with a history in keeping with conduct disorder, characterised by a repetitive and persistent pattern of dissocial, aggressive or defiant behaviour. Common presentations include stealing, bullying, lying, fighting, fire-setting and cruelty to animals. Temper tantrums which are not age-appropriate can also be seen.

Answer 59

**Reassure and discharge with infant gaviscon** This patient with milky vomits after feeding has a history and examination most consistent with gastroesophageal reflux disease (GORD). Vomiting after being laid flat and crying with arching of the back and drawing up the knees to the chest is characteristic of reflux. There are no signs of dehydration (moist mucous membranes, normal capillary refill time) and there are no red flags (normal blood gas, no palpable abdominal mass, no fever, no diarrhoea). This baby is well, and so can be discharged with safety netting, advice on conservative treatments (keep upright and burp after feeds, put their cot on slight incline) and infant gaviscon.

Answer 60

IV fluids + IV morphine sulphate During a simple sickle crisis with an obvious trigger (in this case exercise and the resulting dehydration) the best initial management is providing adequate pain relief and urgent rehydration.

Answer 61

Supportive treatment. This boy presents with features in keeping with slapped cheek syndrome, which is self-limiting and can be managed with supportive treatment only.

Answer 62

**Type I hypersensitivity reaction.** This boy presents with history, symptoms and signs in keeping with acute severe asthma. Acute allergic asthma is a type I (immediate type) hypersensitivity and its mechanism is shared with anaphylaxis and allergy: * First contact with allergens trigger formation of IgE antibodies, which fix to mast cells. * Subsequent contact with allergens triggers the mast cells to degranulate, releasing mediators and vasoactive substances within minutes.

Answer 63

Call an ambulance immediately This boy with a very high fever, sore throat, soft inspiratory stridor and drooling has acute epiglottitis. This is an infection of the epiglottis caused by **Haemophilus** **influenzae**. Edema of the epiglottis causes rapid respiratory distress over a period of hours, with obstruction causing a soft inspiratory stridor. Patients sit forward with their mouth open to try to keep their airway patient. The throat is extremely sore in epiglottitis, so patients avoid swallowing which leads to drooling out of their open mouths. Epiglottitis is an emergency; in a GP setting, an ambulance should be called to transfer patients to hospital as soon as possible.

Answer 64

Transient proteinuria Transient proteinuria is common, benign and tends to recede as the precipitant is removed. Precipitants include seizures, strong infections, pregnancy and heavy exercise. It is likely if the urine dip were to be repeated in 24 hours, the protein would either be undetectable or at trace levels. ***Given the seizure is far more likely to be a cause of the proteinuria than "minimal change disease"***

Answer 65

Lorazepam 4mg IV This is the most appropriate next step in the management of status epileptics in an acute hospital setting.

Answer 66

The doctor suspects a diagnosis of **acute otitis media.** Discharge with pain relief and appropriate safety netting This child is presenting with a two day history of ear pain following an upper respiratory tract infection; together with inflammation of the tympanic membrane the most likely diagnosis is Acute otitis media. First-line management is adequate analgesia with appropriate safety netting. Antibiotics are only indicated in children if: * Eardrum is perforated * \< 2 years old and bilateral infection * Present for ≥4 days * \< 3 months old

Answer 67

This boy has signs suggestive of a ventricular septal defect (VSD), namely a **pan**-**systolic** **murmur** heard loudest at the **lower left sternal edge.** This finding is similar to that of **mitral** **regurgitation**, however VSD is more common in children with Down's syndrome.

Answer 68

**Tuberous sclerosis complex** Tuberous sclerosis complex is the most likely diagnosis given the history and you would expect the MRI head to show evidence of benign tubers in the cerebral hemispheres. The hypo pigmented macules described (ash leaf spots) and angiofibromas of the nose are all characteristic of tuberous sclerosis. Tuberous sclerosis is also associated with epilepsy and the hypsarrhythmia if a classic finding on electroencephalogram.